DYT11
MCID: DYS098
MIFTS: 22

Dystonia-11, Myoclonic (DYT11) malady

Neuronal category

Summaries for Dystonia-11, Myoclonic

Sources:
47OMIM, 33MalaCards
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MalaCards: Dystonia-11, Myoclonic, also known as myoclonic dystonia, is related to myoclonus-dystonia and focal dystonia. An important gene associated with Dystonia-11, Myoclonic is SGCE (sarcoglycan, epsilon). The compound dopamine have been mentioned in the context of this disorder. Related mouse phenotypes are cellular and behavior/neurological.

Description from OMIM:47 159900

Aliases & Classifications for Dystonia-11, Myoclonic

Sources:
49Orphanet, 61UMLS, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
myoclonic dystonia:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

dystonia-11, myoclonic 47
myoclonic dystonia 49 61
hereditary essential myoclonus 49
alcohol-responsive dystonia 49
myoclonus-dystonia syndrome 49
dyt11 49


External Ids:

OMIM47 159900
MESH via Orphanet36 C536096
ICD10 via Orphanet26 G24.1, G25.3
SNOMED-CT via Orphanet58 439732004
UMLS via Orphanet62 C1834570

Related Diseases for Dystonia-11, Myoclonic

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Dystonia-11, Myoclonic family:

dystonia 15, myoclonic

Diseases related to Dystonia-11, Myoclonic via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1myoclonus-dystonia30.7TOR1A, SGCE
2focal dystonia30.2TOR1A, DRD2
3german syndrome10.3
4dystonia 15, myoclonic10.2
5torsion dystonia10.2
6myoclonus10.2
7silver-russell syndrome10.1
8tyrosine hydroxylase deficiency10.1
9dystonia 710.1
10tremor10.1
11n syndrome10.0
12alcohol dependence10.0DRD2
13gilles de la tourette syndrome10.0DRD2
14obsessive-compulsive disorder10.0SGCE, DRD2
15familial dystonia10.0TOR1A, SGCE
16movement disease10.0SGCE, TOR1A
17parkinson's disease10.0DRD2, TOR1A

Graphical network of diseases related to Dystonia-11, Myoclonic:



Diseases related to dystonia-11, myoclonic

Clinical Features for Dystonia-11, Myoclonic

Sources:
47OMIM
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Clinical features from OMIM:

159900

Clinical synopsis from OMIM:

159900

Drugs & Therapeutics for Dystonia-11, Myoclonic

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Dystonia-11, Myoclonic

Drug clinical trials:

Search ClinicalTrials for Dystonia-11, Myoclonic

Search NIH Clinical Center for Dystonia-11, Myoclonic

Search CenterWatch for Dystonia-11, Myoclonic

Genetic Tests for Dystonia-11, Myoclonic

Anatomical Context for Dystonia-11, Myoclonic

Animal Models for Dystonia-11, Myoclonic or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Dystonia-11, Myoclonic:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.5SGCE, TOR1A, DRD2
2MP:00053868.4SGCE, TOR1A, DRD2
3MP:00036318.2SGCE, TOR1A, DRD2

Publications for Dystonia-11, Myoclonic

Genetic Variations for Dystonia-11, Myoclonic

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Dystonia-11, Myoclonic:

63 (show all 13)
id Symbol AA change Variation SNP ID
1SGCEp.Leu196ArgVAR_026750
2SGCEp.Thr36ArgVAR_066732
3SGCEp.His60ProVAR_066733
4SGCEp.His60ArgVAR_066734
5SGCEp.Met92ThrVAR_066735
6SGCEp.Trp100GlyVAR_066736
7SGCEp.Gly112ArgVAR_066737
8SGCEp.Tyr115CysVAR_066738
9SGCEp.Leu175SerVAR_066739
10SGCEp.Ser177CysVAR_066740
11SGCEp.Leu184ProVAR_066741
12SGCEp.Trp270ArgVAR_066742
13SGCEp.Cys271TyrVAR_066743

Expression for genes affiliated with Dystonia-11, Myoclonic

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Dystonia-11, Myoclonic

Search GEO for disease gene expression data for Dystonia-11, Myoclonic.

Pathways for genes affiliated with Dystonia-11, Myoclonic

Compounds for genes affiliated with Dystonia-11, Myoclonic

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Dystonia-11, Myoclonic according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dopamine45 29 11 2412.1TOR1A, DRD2

GO Terms for genes affiliated with Dystonia-11, Myoclonic

Products for genes affiliated with Dystonia-11, Myoclonic

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dystonia-11, Myoclonic

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet